SCYL1 gene related symptoms and diseases
All the information presented here about the SCYL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCYL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hepatic fibrosis | Very Common - Between 80% and 100% cases |
| Paresthesia | Very Common - Between 80% and 100% cases |
| Hepatic failure | Very Common - Between 80% and 100% cases |
| Distal sensory impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SCYL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Progressive cerebellar ataxia
- Sensory impairment
- Intention tremor
- Frequent falls
- Sensorimotor neuropathy
- Abnormality of the liver
- Foot dorsiflexor weakness
- Cerebellar vermis atrophy
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCYL1 gene
Here you will find a list of rare diseases related to the SCYL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME
Alternate names
ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy, autosomal recessive spinocerebellar ataxia type 21, scar21
Description
Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).
Most common symptoms of ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME
- Intellectual disability
- Global developmental delay
- Ataxia
- Muscle weakness
- Spasticity
More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME
Search interest in SCYL1
Potential gene panels for SCYL1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
SCYL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCYL1 gene.
More info about this panel United States.
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